Linked Data
gnomAD v4:
5-14769131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14769131C>T , CM000667.2:g.14769131C>T | GRCh38 |
| NC_000005.9:g.14769240C>T , CM000667.1:g.14769240C>T | GRCh37 |
| NC_000005.8:g.14822240C>T | NCBI36 |
| NG_008273.1:g.107648G>A | |
| NG_008273.2:g.107655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.157G>A MANE Select | ENSP00000284268.6:p.Gly53Arg | |
| ENST00000646501.1:c.20G>A | ||
| ENST00000284268.6:c.157G>A | ENSP00000284268.6:p.Gly53Arg | |
| ENST00000503389.1:n.163G>A | ||
| ENST00000513115.1:n.182G>A | ||
| NM_054027.4:c.157G>A | NP_473368.1:p.Gly53Arg | |
| XM_011514067.1:c.157G>A | XP_011512369.1:p.Gly53Arg | |
| NM_054027.5:c.157G>A | NP_473368.1:p.Gly53Arg | |
| XM_017009644.2:c.73G>A | XP_016865133.1:p.Gly25Arg | |
| NM_054027.6:c.157G>A MANE Select | NP_473368.1:p.Gly53Arg |